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A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.
Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, Wakatsuki R, Takenouchi A, Iwaizumi M, Hotta Y, Saida K, Koshimizu E, Miyatake S, Saitsu H, Matsumoto N, Nakamura T. Watanabe K, et al. Among authors: saitsu h. J Neurol. 2024 Sep;271(9):6227-6237. doi: 10.1007/s00415-024-12593-w. Epub 2024 Jul 30. J Neurol. 2024. PMID: 39078482
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: saitsu h. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.
Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nishimura A, et al. Among authors: saitsu h. Am J Med Genet A. 2010 May;152A(5):1322-5. doi: 10.1002/ajmg.a.33371. Am J Med Genet A. 2010. PMID: 20425845 No abstract available.
SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: saitsu h. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
De novo mutations in epilepsy.
Saitsu H, Matsumoto N. Saitsu H, et al. Dev Med Child Neurol. 2011 Sep;53(9):806-807. doi: 10.1111/j.1469-8749.2011.03994.x. Epub 2011 Jun 1. Dev Med Child Neurol. 2011. PMID: 21631463 Free article. No abstract available.
489 results